LOINC
Version 2.73

100028-0FBXW7 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalActive

Part Description

LP265699-1   FBXW7 gene
The FBXW7 (F-box and WD repeat domain containing 7) gene [HGNC Gene ID:16712] is located on chromosome 4 at 4q31.3. This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene was previously referred to as FBX30, and belongs to the Fbws class; in addition to an F-box, this protein contains 7 tandem WD40 repeats. This protein binds directly to cyclin E and probably targets cyclin E for ubiquitin-mediated degradation. Mutations in this gene are detected in ovarian and breast cancer cell lines, implicating the gene's potential role in the pathogenesis of human cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012] [NCBI Gene ID:55294] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
FBXW7 gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
FBXW7 gene Mut Anl Bld/T
Display Name
FBXW7 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha
FBXW7 gene variant analysis, Blood or tissue specimen

Example Answer List LL744-4

Source: Regenstrief Institute

Answer Code Score Answer ID
Detected LA11882-0
Not detected LA11883-8

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.72
Last Updated
Version 2.72
Order vs. Observation
Both

Language Variants Get Info

zh-CNChinese (China)
FBXW7 基因 突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
nl-NLDutch (Netherlands)
FBXW7-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
it-ITItalian (Italy)
FBXW7, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
es-ESSpanish (Spain)
Gen FBXW7 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=100028-0